<abstract xmlns="http://www.w3.org/1999/xhtml">

<bold>Introduction</bold>: Peutz-Jeghers syndrome is a rare autosomal dominant inherited disorder characterized by hamartomatous intestinal polyps and mucocutaneous pigmentation. Most cases appear to be linked to the mutation of the STK11 gene. Patients are at a lifetime risk of gastrointestinal and non-gastrointestinal cancers.
<bold>Case Presentation</bold>: The present study offers the case of this rare disorder in a young woman revealed by jejunal obstruction caused by intussusception. A 32-year-old woman was referred to the surgical department with symptoms suggestive of an obstructive syndrome. On examination, there were multiple perioral pigmented lesions. An urgent exploratory laparotomy revealed bowel obstruction caused by an intussusception with a large polyp. The patient suffered another similar episode 4 years before leading to the diagnosis of Peutz-Jeghers Syndrome, however she was under no surveillance. Patients with pigmented lesions and a family member suffering from the mentioned syndrome should perform endoscopy and genetic tests to diagnose early and avoid complications.
<bold>Conclusion</bold>: Peutz-Jeghers Syndrome is difficult to treat due to its nonspecific symptomatology and late diagnosis. Life-threatening complications such as intussusception and various types of cancer are unanticipated. It is vital to diagnose and perform routine screening, which will make it possible to prolong the survival of many patients.
</abstract>

Introduction: Peutz-Jeghers syndrome is a rare autosomal dominant inherited disorder characterized by hamartomatous intestinal polyps and mucocutaneous pigmentation. Most cases appear to be linked to the mutation of the STK11 gene. Patients are at a lifetime risk of gastrointestinal and non-gastrointestinal cancers.
Case Presentation: The present study offers the case of this rare disorder in a young woman revealed by jejunal obstruction caused by intussusception. A 32-year-old woman was referred to the surgical department with symptoms suggestive of an obstructive syndrome. On examination, there were multiple perioral pigmented lesions. An urgent exploratory laparotomy revealed bowel obstruction caused by an intussusception with a large polyp. The patient suffered another similar episode 4 years before leading to the diagnosis of Peutz-Jeghers Syndrome, however she was under no surveillance. Patients with pigmented lesions and a family member suffering from the mentioned syndrome should perform endoscopy and genetic tests to diagnose early and avoid complications.
Conclusion: Peutz-Jeghers Syndrome is difficult to treat due to its nonspecific symptomatology and late diagnosis. Life-threatening complications such as intussusception and various types of cancer are unanticipated. It is vital to diagnose and perform routine screening, which will make it possible to prolong the survival of many patients.

The importance of early diagnosis and surveillance in Peutz-Jeghers Syndrome: A case report

“Iuliu Hațieganu” University of Medicine and Pharmacy

Acta Marisiensis - Seria Medica

This work is licensed under the Creative Commons Attribution 4.0 International License.

Introduction: Peutz-Jeghers syndrome is a rare autosomal dominant inherited disorder characterized by hamartomatous intestinal polyps and mucocutaneous...

The importance of early diagnosis and surveillance in Peutz-Jeghers Syndrome: A case report

Pubblicato online: 30 giu 2023

Pagine: 135 - 137

Ricevuto: 20 dic 2022

Accettato: 10 apr 2023

DOI: https://doi.org/10.2478/amma-2023-0017

Parole chiave
hamartomatous polyps, anemia, intussusception, screening, family history

© 2023 Marina-Georgia Balosin, published by Sciendo

This work is licensed under the Creative Commons Attribution 4.0 International License.

The importance of early diagnosis and surveillance in Peutz-Jeghers Syndrome: A case report

Pubblicato online: 30 giu 2023

Pagine: 135 - 137

Ricevuto: 20 dic 2022

Accettato: 10 apr 2023

DOI: https://doi.org/10.2478/amma-2023-0017

Parole chiavehamartomatous polyps, anemia, intussusception, screening, family history

© 2023 Marina-Georgia Balosin, published by Sciendo

This work is licensed under the Creative Commons Attribution 4.0 International License.

Parole chiave
hamartomatous polyps, anemia, intussusception, screening, family history